Results 91 to 100 of about 804,075 (318)
Facial Action Coding System for Infants and Young Children (Baby FACS) [PDF]
, 2016 We will be conducting an introductory workshop on Oster’s Facial Action Coding System for Infants and Young Children (Baby FACS), a modification for infants and young children of Ekman, Friesen, & Hager’s fine-grained, anatomically based adult FACS.
DONDI, Marco, Oster, H
core
Quality and Safety Aspects of Infant Nutrition [PDF]
, 2012 Quality and safety aspects of infant nutrition are of key importance for child health, but oftentimes they do not get much attention by health care professionals whose interest tends to focus on functional benefits of early nutrition.
Ashwell, Margaret +2 more
core +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane +43 more
wiley +1 more source
Infant Feeding Survey, 2000 [PDF]
, 2003 copyright UK Data Service and data collection copyright owner.The Infant Feeding Survey (IFS) has been carried out every five years since 1975, in order to establish information about infant feeding practices.
BMRB International +1 more
core +1 more source
Epilepsia OpenObjectives To determine the incidence of later epilepsy in full‐term infants with neonatal encephalopathy (NE) who undergo continuous electroencephalography (cEEG) monitoring in the neonatal period and to identify potential predictors of later epilepsy ...
Carol M. Stephens +9 more
doaj +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source